A Novel Homozygous Mutation in the KCNJ11 Gene of a Neonate with Congenital Hyperinsulinism and Successful Management with Sirolimus

Congenital hyperinsulinism (CHI) is the most common cause of neonatal persistent hypoglycemia caused by mutations in nine known genes. Early diagnosis and treatment are important to prevent brain injury. The clinical presentation and response to pharmacological therapy may vary depending on the unde...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Clin Res Pediatr Endocrinol
Päätekijät: Ünal, Sevim, Gönülal, Deniz, Uçaktürk, Ahmet, Siyah Bilgin, Betül, Flanagan, Sarah E., Gürbüz, Fatih, Tayfun, Meltem, Elmaoğulları, Selin, Araslı, Aslıhan, Demirel, Fatma, Ellard, Sian, Hussain, Khalid
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Galenos Publishing 2016
Aiheet:
Case Report
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5198009/
https://ncbi.nlm.nih.gov/pubmed/27181099
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4274/jcrpe.2773
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia